Varaico: Literature-Extracted Genetic Variants

Gene:PDCD1
Variant:p.R86H

PDCD1

538 papers

RefSeq Summary

Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells....

Pfam Domains

V-setaa 37–145UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

programmed cell death 1

HGNC Previous Symbol

SLEB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005018.3
p.R86H
c.257G>A
Surrounding Variants
1 paper
NM_005018.3
p.R86P
c.257G>C
1 paper
NM_005018.3
p.R86C
c.256C>T
1 paper
NM_005018.3
p.Q88delins
c.262_263delinsGA
3 papers
NM_005018.3
p.Q88L
c.263A>T
1 paper
NM_005018.3
p.E84_D85insC
c.250_254ins3
1 paper
NM_005018.3
p.Q88Q
c.264G>A
1 paper
NM_005018.3
p.P89A
c.265C>G
1 paper
NM_005018.3
p.P89T
c.265C>A
1 paper
NM_005018.3
p.P89R
c.266C>G
1 paper
NM_005018.3
p.P83H
c.248C>A
1 paper
NM_005018.3
p.L79_F82delFs
c.236_246del11
1 paper
NM_005018.3
p.F82S
c.245T>C
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